A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491995



Internal ID269221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30619496..30625634hg38UCSC Ensembl
chr8:30477013..30483151hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386139
hg196139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011214
Samples
Known GenesGTF2E2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491995
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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